Gene Symbol | GUCY2C |
Entrez Gene ID | 2984 |
Full Name | guanylate cyclase 2C |
Synonyms | DIAR6,GC-C,GUC2C,MECIL,MUCIL,STAR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]. |
Disorder MIM: | |
Disorder Html: | Diarrhea 6, 614616 (3); Meconium ileus, 614665 (3) |